• Gene id: 93210

Gene Summary

• Gene Symbol: PGAP3   Gene   UCSC   Ensembl
• Aliases: AGLA546, CAB2, PERLD1, PP1498, hCOS16
• Gene name: post-GPI attachment to proteins 3
• Alternate names: post-GPI attachment to proteins factor 3, COS16 homolog, gene coamplified with ERBB2 protein, per1-like domain containing 1,
• Gene location: 17q12 (39688069: 39671121)     Exons: 9     NC_000017.11
• Gene summary(Entrez): This gene encodes a glycosylphosphatidylinositol (GPI)-specific phospholipase that primarily localizes to the Golgi apparatus. This ubiquitously expressed gene is predicted to encode a seven-transmembrane protein that removes unsaturated fatty acids from
• OMIM: 611801

Protein Summary

• Protein general information: Q96FM1  
  • Name: Post GPI attachment to proteins factor 3 (COS16 homolog) (hCOS16) (Gene coamplified with ERBB2 protein) (PER1 like domain containing protein 1)
  • Length: 320  
  • Mass: 36,475
• Sequence:

  MAGLAARLVLLAGAAALASGSQGDREPVYRDCVLQCEEQNCSGGALNHFRSRQPIYMSLAGWTCRDDCKYECMWV
  TVGLYLQEGHKVPQFHGKWPFSRFLFFQEPASAVASFLNGLASLVMLCRYRTFVPASSPMYHTCVAFAWVSLNAW
  FWSTVFHTRDTDLTEKMDYFCASTVILHSIYLCCVRTVGLQHPAVVSAFRALLLLMLTVHVSYLSLIRFDYGYNL
  VANVAIGLVNVVWWLAWCLWNQRRLPHVRKCVVVVLLLQGLSLLELLDFPPLFWVLDAHAIWHISTIPVHVLFFS
  FLEDDSLYLLKESEDKFKLD

• Structural information:
  • Interpro: IPR007217  
  • STRING: ENSP00000300658
• Other Databases: GeneCards:  PGAP3  Malacards:  PGAP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006505	GPI anchor metabolic process	IMP	biological process
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016788	hydrolase activity, acting on ester bonds	IMP	molecular function
GO:0031227	intrinsic component of endoplasmic reticulum membrane	IDA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0006505	GPI anchor metabolic process	IMP	biological process
GO:0006506	GPI anchor biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016788	hydrolase activity, acting on ester bonds	IMP	molecular function
GO:0031227	intrinsic component of endoplasmic reticulum membrane	IDA	cellular component
GO:0006505	GPI anchor metabolic process	IMP	biological process
GO:0016788	hydrolase activity, acting on ester bonds	IMP	molecular function
GO:0031227	intrinsic component of endoplasmic reticulum membrane	IDA	cellular component

Diseases

Associated diseases	References
Cancer (breast)	GAD: 17117180
Male factor infertility	MIK: 23455884
Asthenozoospermia	MIK: 23455884
Hyperphosphatasia with mental retardation syndrome	KEGG: H01488
Cryptorchidism	MIK: 28606200
Asthenozoospermia	MIK: 23455884

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23455884	Idiopathic asthenozoospermia				Male infertility	GRP78 lactoferrin SPANXB PGK2 flagellin DJ-1 XPA binding protein 2 CAB2 GPX4 and GAPDH
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq